| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.45364001C>A | CA308966691 | ERCC2 | c.934G>T (p.Asp312Tyr) n.963G>T c.*192G>T (n.*192G>T) c.811G>T (p.Asp271Tyr) c.862G>T (p.Asp288Tyr) c.57G>T n.1031G>T c.700G>T (p.Asp234Tyr) c.856G>T (p.Asp286Tyr) n.981G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.45364001C>T | CA158818 | ERCC2 | c.934G>A (p.Asp312Asn) n.963G>A c.*192G>A (n.*192G>A) c.811G>A (p.Asp271Asn) c.862G>A (p.Asp288Asn) c.57G>A n.1031G>A c.700G>A (p.Asp234Asn) c.856G>A (p.Asp286Asn) n.981G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.45364001C>G | CA406373321 | ERCC2 | c.934G>C (p.Asp312His) n.963G>C c.*192G>C (n.*192G>C) c.811G>C (p.Asp271His) c.862G>C (p.Asp288His) c.57G>C n.1031G>C c.700G>C (p.Asp234His) c.856G>C (p.Asp286His) n.981G>C | dbSNP gnomAD v4 |
| 19 | g.45364001C= | CA2338395690 | ERCC2 | c.934G= (p.Asp312=) n.963G= c.*192G= (n.*192G=) c.811G= (p.Asp271=) c.862G= (p.Asp288=) c.57G= n.1031G= c.700G= (p.Asp234=) c.856G= (p.Asp286=) n.981G= | dbSNP |